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The Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/American Thoracic Guideline Into

Katharine Harman1,2, Amjad Horani3, Amelia Shoemark2,4

  • 1Department of Paediatrics, Kings College Hospital NHS Foundation Trust, London, UK.

Pediatric Pulmonology
|March 27, 2026
PubMed

Insights

New guidelines unify diagnosis for primary ciliary dyskinesia (PCD), a rare genetic disorder. This evidence-based approach aids early detection, reducing disease progression and improving patient outcomes for this complex condition.

Area of Science:

  • Respiratory Medicine
  • Genetics
  • Diagnostic Science

Background:

  • Primary ciliary dyskinesia (PCD) is a rare inherited disorder causing progressive lung disease, chronic rhinosinusitis, recurrent ear infections, laterality defects, and infertility.
  • Delayed diagnosis of PCD is common due to varied clinical presentations, increasing patient morbidity.
  • Previous diagnostic guidelines from the American Thoracic Society (ATS) and European Respiratory Society (ERS) differed, complicating diagnosis.

Purpose of the Study:

  • To present the first evidence-based, joint European Respiratory Society/American Thoracic Society guidelines for diagnosing primary ciliary dyskinesia.
  • To unify diagnostic recommendations and approaches between major respiratory societies.
  • To provide clinicians with updated recommendations for PCD diagnosis, including test accuracy and overcoming challenges.

Main Methods:

  • Formulation of joint ATS/ERS clinical practice guidelines by an expert task force.
  • Systematic reviews and the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach guided guideline development.
  • Analysis of diagnostic test accuracy using PICO questions (nasal nitric oxide, high-speed video microscopy, immunofluorescence) against reference standards (TEM, genetics) and narrative questions on clinical presentation and resource-limited settings.

Main Results:

  • The joint guidelines offer a unified, evidence-based approach to PCD diagnosis.
  • The accuracy of nasal nitric oxide, high-speed video microscopy, and immunofluorescence were evaluated against established reference standards.
  • Recommendations address clinical referral criteria, supplementary diagnostic tests, and strategies for diagnosing PCD in resource-limited environments.

Conclusions:

  • The newly established joint ERS/ATS guidelines provide a unified, evidence-based framework for primary ciliary dyskinesia diagnosis.
  • These guidelines aim to facilitate earlier and more accurate diagnosis, thereby reducing morbidity associated with PCD.
  • The recommendations offer practical guidance for clinicians, addressing diagnostic challenges and promoting consistent diagnostic practices globally.

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